A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851641



Internal ID1023550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10007990..10012138hg38UCSC Ensembl
Innerchr1:10007990..10012138hg38UCSC Ensembl
Outerchr1:10007759..10012379hg38UCSC Ensembl
chr1:10068048..10072196hg19UCSC Ensembl
Innerchr1:10068048..10072196hg19UCSC Ensembl
Outerchr1:10067817..10072437hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384149
hg194149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585194
Supporting Variants
SamplesHG00641
Known GenesRBP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851641
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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