A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612844



Internal ID6653056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37146921..37147958hg38UCSC Ensembl
Innerchr7:37146921..37147958hg38UCSC Ensembl
Outerchr7:37146862..37148072hg38UCSC Ensembl
chr7:37186526..37187563hg19UCSC Ensembl
Innerchr7:37186526..37187563hg19UCSC Ensembl
Outerchr7:37186467..37187677hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12738476, essv12738478, essv12738477, essv12738479
SamplesHG02981, HG01556, HG01323, HG01890
Known GenesELMO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612844
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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