A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932433



Internal ID6557726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54564452..54566874hg38UCSC Ensembl
Innerchr1:54564480..54566846hg38UCSC Ensembl
Outerchr1:54564424..54566902hg38UCSC Ensembl
chr1:55030125..55032547hg19UCSC Ensembl
Innerchr1:55030153..55032519hg19UCSC Ensembl
Outerchr1:55030097..55032575hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586093
Supporting Variants
SamplesHG04146
Known GenesACOT11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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