A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587507



Internal ID5409058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94808530..94809885hg38UCSC Ensembl
Innerchr2:94808530..94809885hg38UCSC Ensembl
Outerchr2:94808344..94810146hg38UCSC Ensembl
chr2:95474275..95475630hg19UCSC Ensembl
Innerchr2:95474275..95475630hg19UCSC Ensembl
Outerchr2:95474089..95475891hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591656
Supporting Variants
SamplesNA18947
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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