A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605568



Internal ID6972498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80356938..80363510hg38UCSC Ensembl
Innerchr5:80356942..80363507hg38UCSC Ensembl
Outerchr5:80356935..80363514hg38UCSC Ensembl
chr5:79652757..79659329hg19UCSC Ensembl
Innerchr5:79652761..79659326hg19UCSC Ensembl
Outerchr5:79652754..79659333hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg386573
hg196573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955679, essv11955685, essv11955680, essv11955693, essv11955690, essv11955687, essv11955694, essv11955674, essv11955699, essv11955697, essv11955698, essv11955689, essv11955695, essv11955684, essv11955671, essv11955675, essv11955676, essv11955677, essv11955701, essv11955682, essv11955681, essv11955700, essv11955678, essv11955692, essv11955688, essv11955672, essv11955696, essv11955702, essv11955691, essv11955683, essv11955686, essv11955673
SamplesHG02610, HG02583, HG02702, NA19350, NA19092, HG02804, HG03190, NA20805, NA19377, HG03518, HG02325, NA19723, HG02840, NA19904, NA19041, NA19385, HG03369, HG02442, NA19437, NA19913, HG03294, NA18907, HG01392, HG03136, HG03437, NA19749, HG01894, NA19310, HG03103, NA19900, HG02855, HG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605568
Frequency
Sample Size2504
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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