A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676981



Internal ID9943086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40839298..40869922hg38UCSC Ensembl
chr19:41345203..41375827hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3830625
hg1930625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv642e199
Supporting Variantsessv5745345, essv5734337, essv5406215, essv5685138, essv5475664, essv5564912, essv5916243, essv5834850, essv6316750, essv5845337, essv6133247, essv5661506, essv6520339, essv5765858, essv6329071, essv5905608, essv5534654, essv6586500, essv6386119, essv6346104, essv6353202, essv6383407, essv5496338, essv5763310, essv6349243, essv5762220, essv5790597, essv5831555, essv6228408, essv6247252, essv6364430, essv6183860, essv5748983, essv5929421, essv5868741, essv5761677, essv6198301, essv5532862, essv6338099, essv5570210, essv6492330, essv5657779, essv5713922, essv5536002, essv6082791, essv5618212, essv5832440, essv6058799, essv5566733, essv5675279, essv5923232, essv6077239, essv6483684, essv5985291, essv6373666, essv6420623, essv5591677, essv5752302, essv6198537, essv6085817, essv6173371, essv5677814, essv5600539, essv6044586, essv6428312, essv6544880, essv6380276, essv6356451, essv5682184, essv5700936, essv6161167, essv6033365, essv5559712, essv6187311, essv5867614, essv6311453, essv5897192, essv5847715
SamplesHG01060, HG00361, NA19066, HG00559, NA18507, HG01389, NA18603, HG00367, HG00318, HG00181, NA19819, NA12340, HG01456, NA18606, NA19443, HG00693, HG00501, NA19382, NA19315, NA20769, HG00270, NA20336, HG01069, HG00422, NA19725, NA19921, HG00464, HG01136, NA18605, NA19247, NA19657, NA19056, HG00732, HG00577, NA19455, HG00436, HG00583, HG01390, HG00651, HG00613, NA20282, NA19059, NA19469, NA18945, NA18541, NA19652, NA19440, NA19834, NA18543, NA18628, HG00734, NA19835, NA19324, NA19083, NA18943, HG00662, NA19085, NA18615, HG00620, HG00269, HG00707, HG00672, HG00578, NA19472, NA19713, HG00186, HG00698, HG00280, NA19080, NA19711, HG00377, NA18989, NA19004, NA18488, HG00628, HG01191, NA18622, HG00581
Known GenesCYP2A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676981
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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