A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13715582



Internal ID6449412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22690319..22692307hg38UCSC Ensembl
Innerchr10:22690335..22692292hg38UCSC Ensembl
Outerchr10:22690304..22692323hg38UCSC Ensembl
chr10:22979248..22981236hg19UCSC Ensembl
Innerchr10:22979264..22981221hg19UCSC Ensembl
Outerchr10:22979233..22981252hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg381989
hg191989
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622599
Supporting Variants
SamplesNA20512
Known GenesPIP4K2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13715582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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