A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613001



Internal ID6653213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43706798..43710341hg38UCSC Ensembl
Innerchr7:43707298..43709841hg38UCSC Ensembl
Outerchr7:43705798..43711341hg38UCSC Ensembl
chr7:43746397..43749940hg19UCSC Ensembl
Innerchr7:43746897..43749440hg19UCSC Ensembl
Outerchr7:43745397..43750940hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg383544
hg193544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12756586
SamplesNA19066
Known GenesCOA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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