A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613187



Internal ID7000085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:53187071..53197559hg38UCSC Ensembl
Innerchr7:53187071..53197559hg38UCSC Ensembl
Outerchr7:53187044..53197616hg38UCSC Ensembl
chr7:53254764..53265252hg19UCSC Ensembl
Innerchr7:53254764..53265252hg19UCSC Ensembl
Outerchr7:53254737..53265309hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3810489
hg1910489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12777589, essv12777590
SamplesHG03376, HG02805
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613187
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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