A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613165



Internal ID7000063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:52461664..52463418hg38UCSC Ensembl
Innerchr7:52461674..52463409hg38UCSC Ensembl
Outerchr7:52461655..52463428hg38UCSC Ensembl
chr7:52529360..52531114hg19UCSC Ensembl
Innerchr7:52529370..52531105hg19UCSC Ensembl
Outerchr7:52529351..52531124hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381755
hg191755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12775371, essv12775369, essv12775370, essv12775368, essv12775373, essv12775372, essv12775374
SamplesHG03645, HG02597, HG03884, HG03718, HG03900, HG03488, HG02699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613165
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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