A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10284781



Internal ID2397050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210549121..210551537hg38UCSC Ensembl
Innerchr1:210549121..210551537hg38UCSC Ensembl
Outerchr1:210549121..210551537hg38UCSC Ensembl
chr1:210722465..210724881hg19UCSC Ensembl
Innerchr1:210722465..210724881hg19UCSC Ensembl
Outerchr1:210722465..210724881hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588720
Supporting Variants
SamplesHG02127
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10284781
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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