A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10269697



Internal ID2860015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205136961..205139095hg38UCSC Ensembl
Innerchr1:205136976..205139081hg38UCSC Ensembl
Outerchr1:205136947..205139110hg38UCSC Ensembl
chr1:205106089..205108223hg19UCSC Ensembl
Innerchr1:205106104..205108209hg19UCSC Ensembl
Outerchr1:205106075..205108238hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382135
hg192135
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588629
Supporting Variants
SamplesHG02537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10269697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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