A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675505



Internal ID9594924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:4022858..4022960hg38UCSC Ensembl
Outerchr18:4022701..4023113hg38UCSC Ensembl
Innerchr18:4022858..4022960hg19UCSC Ensembl
Outerchr18:4022701..4023113hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5669586, essv5762807, essv5980342, essv5972000, essv5405889, essv5732663, essv6395136, essv5769460, essv5602096, essv5803055, essv6466048, essv6089218, essv6493196, essv6054361, essv6383599, essv6052635, essv6303534, essv6309720, essv6268596, essv5621256, essv6047949, essv6210261, essv6418218, essv6201598, essv6576754, essv5479168, essv5610521, essv6549805, essv6180837, essv5944731, essv6268833, essv5979612, essv5704104, essv5742995, essv6045670, essv5989084, essv6479404, essv5926758, essv6421331, essv6042858, essv5887209, essv6379934, essv6112966, essv6136131, essv5796418, essv5514527, essv5841363, essv5719905, essv5625101, essv5601152, essv6478977, essv5723063, essv5966997, essv6067042, essv6532444, essv5783295, essv5860021, essv5757393, essv6209247, essv5672533, essv6457932, essv5916955, essv6473963, essv5477591, essv6306846, essv5440547, essv6223786, essv5620869, essv6173373, essv5813187, essv6134113, essv6002751, essv5451772, essv6183168, essv6449278, essv5397298, essv6370157, essv5594002, essv6066370, essv6026423, essv5692763, essv6272649, essv5491024, essv6154124, essv6321041, essv6256352, essv5429142, essv5614703, essv5862158, essv6489656, essv6125993, essv6364319, essv6057118, essv6312479, essv5945922, essv6522656, essv6179012, essv6261382, essv6151252, essv5679072
SamplesHG00309, HG00313, NA19436, HG00318, HG00344, HG01072, NA19819, HG00328, NA19437, HG00369, HG01083, HG00274, HG00131, HG00310, HG01079, NA10847, HG01389, NA19788, HG01492, HG01488, HG00375, HG00326, NA19920, HG00139, NA18546, NA20588, HG00334, HG01204, HG00280, HG01101, NA18868, NA20586, HG00247, HG01133, HG00342, HG00154, HG00321, HG00339, NA19428, HG00346, HG01384, NA19390, HG00337, HG00140, HG00180, NA18623, HG01061, HG00372, HG01047, NA19397, HG00330, HG00125, HG01136, NA19663, HG00276, HG00284, NA19457, HG00114, HG00306, NA19380, NA19395, NA19372, NA19703, HG00268, HG00325, NA20753, NA12275, HG00260, HG01073, HG00282, HG01170, HG01069, HG01356, HG00249, NA11892, HG01080, HG00329, HG01070, NA18619, NA19138, NA19391, NA20518, HG00138, NA19446, HG01390, NA11992, HG00285, HG01366, HG01108, HG00251, HG00275, HG00324, HG00183, HG01377, HG00143, HG00272, HG00345, NA19065, HG00312, HG00361
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675505
Frequency
Sample Size1151
Observed Gain0
Observed Loss100
Observed Complex0
Frequencyn/a


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