A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606948



Internal ID6993883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140323877..140324264hg38UCSC Ensembl
Innerchr5:140323877..140324264hg38UCSC Ensembl
Outerchr5:140323717..140324525hg38UCSC Ensembl
chr5:139703462..139703849hg19UCSC Ensembl
Innerchr5:139703462..139703849hg19UCSC Ensembl
Outerchr5:139703302..139704110hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12076775, essv12076770, essv12076774, essv12076769, essv12076773, essv12076771, essv12076772
SamplesNA19190, HG02946, NA18908, NA19200, HG01958, NA19144, HG03351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606948
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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