A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929375



Internal ID5265989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52498849..52501843hg38UCSC Ensembl
Innerchr1:52498864..52501828hg38UCSC Ensembl
Outerchr1:52498834..52501858hg38UCSC Ensembl
chr1:52964521..52967515hg19UCSC Ensembl
Innerchr1:52964536..52967500hg19UCSC Ensembl
Outerchr1:52964506..52967530hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382995
hg192995
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586051
Supporting Variants
SamplesNA18640
Known GenesZCCHC11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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