A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588724



Internal ID6976140
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10285210
SamplesNA19060
Known GenesKCNH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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