A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12693844



Internal ID2695660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:21462186..21465457hg38UCSC Ensembl
Innerchr7:21462186..21465457hg38UCSC Ensembl
Outerchr7:21461909..21465713hg38UCSC Ensembl
chr7:21501804..21505075hg19UCSC Ensembl
Innerchr7:21501804..21505075hg19UCSC Ensembl
Outerchr7:21501527..21505331hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg383272
hg193272
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612505
Supporting Variants
SamplesHG02568
Known GenesSP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12693844
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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