A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6294161



Internal ID9271564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50102356..50240662hg38UCSC Ensembl
Outerchr10:50101985..50241032hg38UCSC Ensembl
Innerchr10:51862116..52000422hg19UCSC Ensembl
Outerchr10:51861745..52000792hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38139048
hg19139048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667681
Supporting Variants
SamplesHG00346
Known GenesASAH2, FAM21A, FAM21B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6294161
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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