A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607708



Internal ID6994640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178179337..178181710hg38UCSC Ensembl
Innerchr5:178179339..178181709hg38UCSC Ensembl
Outerchr5:178179336..178181712hg38UCSC Ensembl
chr5:177606338..177608711hg19UCSC Ensembl
Innerchr5:177606340..177608710hg19UCSC Ensembl
Outerchr5:177606337..177608713hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382374
hg192374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12147827, essv12147850, essv12147830, essv12147848, essv12147828, essv12147825, essv12147832, essv12147847, essv12147831, essv12147833, essv12147853, essv12147834, essv12147841, essv12147852, essv12147843, essv12147829, essv12147836, essv12147837, essv12147826, essv12147840, essv12147844, essv12147835, essv12147849, essv12147838, essv12147842, essv12147839, essv12147851, essv12147846, essv12147845
SamplesHG01098, HG01918, HG02002, HG01443, HG02298, NA19734, HG01374, HG01971, HG01947, HG03705, NA19728, HG02105, HG01134, HG02003, NA19731, HG02104, HG01256, HG01183, HG02008, HG01497, HG01954, HG00638, NA19741, HG01342, HG01935, HG01269, HG01468, HG02348, HG01920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607708
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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