A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10285210



Internal ID5637181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210950816..210954491hg38UCSC Ensembl
Innerchr1:210950816..210954491hg38UCSC Ensembl
Outerchr1:210950316..210954991hg38UCSC Ensembl
chr1:211124158..211127833hg19UCSC Ensembl
Innerchr1:211124158..211127833hg19UCSC Ensembl
Outerchr1:211123658..211128333hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg383676
hg193676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588724
Supporting Variants
SamplesNA19060
Known GenesKCNH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10285210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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