A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851626



Internal ID6476919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9992655..10003176hg38UCSC Ensembl
Innerchr1:9992701..10003130hg38UCSC Ensembl
Outerchr1:9992609..10003222hg38UCSC Ensembl
chr1:10052713..10063234hg19UCSC Ensembl
Innerchr1:10052759..10063188hg19UCSC Ensembl
Outerchr1:10052667..10063280hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3810522
hg1910522
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585192
Supporting Variants
SamplesHG01366
Known GenesRBP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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