A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585757



Internal ID6973278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37666634..37667317hg38UCSC Ensembl
Innerchr1:37666637..37667314hg38UCSC Ensembl
Outerchr1:37666631..37667320hg38UCSC Ensembl
chr1:38132306..38132989hg19UCSC Ensembl
Innerchr1:38132309..38132986hg19UCSC Ensembl
Outerchr1:38132303..38132992hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9912699, essv9912701, essv9912697, essv9912689, essv9912702, essv9912685, essv9912693, essv9912700, essv9912687, essv9912681, essv9912686, essv9912690, essv9912683, essv9912680, essv9912691, essv9912695, essv9912684, essv9912698, essv9912688, essv9912696, essv9912694, essv9912704, essv9912692, essv9912703, essv9912682
SamplesHG02122, NA18627, HG01873, NA11930, HG01813, HG01844, HG00419, HG00982, HG00282, NA19077, NA20809, HG02397, HG01845, HG00619, HG00956, HG00410, NA18634, HG00476, HG02391, HG02179, HG01798, HG02373, HG02367, HG01817, HG00628
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585757
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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