A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964786



Internal ID6590079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70887121..70900743hg38UCSC Ensembl
Innerchr1:70887123..70900742hg38UCSC Ensembl
Outerchr1:70887120..70900745hg38UCSC Ensembl
chr1:71352804..71366426hg19UCSC Ensembl
Innerchr1:71352806..71366425hg19UCSC Ensembl
Outerchr1:71352803..71366428hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813623
hg1913623
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586368
Supporting Variants
SamplesNA21124
Known GenesPTGER3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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