A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606907



Internal ID6993842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137668784..137669439hg38UCSC Ensembl
Innerchr5:137668983..137669389hg38UCSC Ensembl
Outerchr5:137668546..137669677hg38UCSC Ensembl
chr5:137004473..137005128hg19UCSC Ensembl
Innerchr5:137004672..137005078hg19UCSC Ensembl
Outerchr5:137004235..137005366hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12074905, essv12074906, essv12074912, essv12074917, essv12074919, essv12074913, essv12074908, essv12074914, essv12074918, essv12074910, essv12074907, essv12074916, essv12074911, essv12074915, essv12074909
SamplesHG01462, HG01456, HG03796, HG00130, NA12005, HG01709, NA20533, HG02737, HG00145, HG01149, NA11894, NA12249, HG00117, NA12546, HG02778
Known GenesKLHL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606907
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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