A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615180



Internal ID6655379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137888254..137889079hg38UCSC Ensembl
Innerchr7:137888257..137889077hg38UCSC Ensembl
Outerchr7:137888252..137889082hg38UCSC Ensembl
chr7:137573000..137573825hg19UCSC Ensembl
Innerchr7:137573003..137573823hg19UCSC Ensembl
Outerchr7:137572998..137573828hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12980154, essv12980155, essv12980156, essv12980151, essv12980148, essv12980162, essv12980161, essv12980157, essv12980147, essv12980158, essv12980159, essv12980163, essv12980152, essv12980149, essv12980164, essv12980160, essv12980150, essv12980153
SamplesHG02681, NA20778, NA20803, NA12004, NA20504, HG01047, NA11894, NA12830, HG02490, NA11832, HG02181, HG02481, NA20810, HG01464, HG00281, NA20758, NA20528, HG01789
Known GenesCREB3L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615180
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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