A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9874571



Internal ID6193501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17034521..17036879hg38UCSC Ensembl
Innerchr1:17034521..17036879hg38UCSC Ensembl
Outerchr1:17034200..17037129hg38UCSC Ensembl
chr1:17361016..17363374hg19UCSC Ensembl
Innerchr1:17361016..17363374hg19UCSC Ensembl
Outerchr1:17360695..17363624hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585358
Supporting Variants
SamplesNA19723
Known GenesSDHB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9874571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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