A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612101



Internal ID6652315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:8079310..8080811hg38UCSC Ensembl
Innerchr7:8079310..8080811hg38UCSC Ensembl
Outerchr7:8079023..8081069hg38UCSC Ensembl
chr7:8118940..8120441hg19UCSC Ensembl
Innerchr7:8118940..8120441hg19UCSC Ensembl
Outerchr7:8118653..8120699hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12676925, essv12676944, essv12676926, essv12676873, essv12676947, essv12676887, essv12676861, essv12676862, essv12676879, essv12676898, essv12676914, essv12676889, essv12676874, essv12676923, essv12676902, essv12676864, essv12676910, essv12676938, essv12676931, essv12676880, essv12676881, essv12676901, essv12676867, essv12676899, essv12676924, essv12676871, essv12676853, essv12676912, essv12676854, essv12676941, essv12676865, essv12676907, essv12676918, essv12676891, essv12676893, essv12676927, essv12676906, essv12676942, essv12676886, essv12676908, essv12676900, essv12676883, essv12676905, essv12676940, essv12676855, essv12676892, essv12676928, essv12676866, essv12676943, essv12676936, essv12676948, essv12676939, essv12676896, essv12676921, essv12676922, essv12676877, essv12676894, essv12676875, essv12676868, essv12676882, essv12676950, essv12676863, essv12676857, essv12676890, essv12676878, essv12676934, essv12676949, essv12676852, essv12676929, essv12676930, essv12676885, essv12676917, essv12676945, essv12676935, essv12676870, essv12676859, essv12676895, essv12676913, essv12676911, essv12676872, essv12676932, essv12676860, essv12676937, essv12676919, essv12676897, essv12676904, essv12676915, essv12676916, essv12676920, essv12676888, essv12676876, essv12676946, essv12676858, essv12676903, essv12676933, essv12676884, essv12676869, essv12676909, essv12676856
SamplesHG02879, NA19146, HG02854, HG01241, HG03279, NA19734, HG01896, HG03479, NA18523, HG03563, HG03437, HG02983, HG03410, NA19310, HG02334, HG03129, HG02759, NA19023, HG03295, NA19455, NA18516, HG02952, HG03419, NA19449, NA19184, HG03048, NA18489, HG02314, HG03432, HG02497, HG01958, NA19378, HG03548, HG02976, HG03572, NA19143, HG02308, HG03376, HG02895, HG02053, HG03461, HG02462, NA19652, HG02646, HG02554, HG01398, HG03578, NA18856, NA19096, HG02667, NA19351, HG03445, HG03130, HG03024, HG03539, NA19036, HG03114, HG01413, HG03040, HG03391, NA19374, HG03455, HG03473, NA18923, NA18486, HG02461, HG03547, HG02807, NA19901, HG02558, HG03097, HG03069, HG03428, HG02052, NA19318, HG02586, HG03118, HG03115, HG03132, HG01063, HG02819, NA19025, HG02629, HG01303, NA19446, HG03123, NA19452, NA20317, HG02589, HG02837, HG02678, NA19160, HG02476, NA19198, HG02013, NA19092, NA19468, HG02860, HG03091
Known GenesGLCCI1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612101
Frequency
Sample Size2504
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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