A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13861670



Internal ID3863486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72948186..72952432hg38UCSC Ensembl
Innerchr10:72948220..72952398hg38UCSC Ensembl
Outerchr10:72948152..72952466hg38UCSC Ensembl
chr10:74707944..74712190hg19UCSC Ensembl
Innerchr10:74707978..74712156hg19UCSC Ensembl
Outerchr10:74707910..74712224hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg384247
hg194247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623807
Supporting Variants
SamplesHG02792
Known GenesPLA2G12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13861670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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