A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13948149



Internal ID5836343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119774019..119780329hg38UCSC Ensembl
Innerchr10:119774019..119780329hg38UCSC Ensembl
Outerchr10:119773675..119780617hg38UCSC Ensembl
chr10:121533531..121539841hg19UCSC Ensembl
Innerchr10:121533531..121539841hg19UCSC Ensembl
Outerchr10:121533187..121540129hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg386311
hg196311
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624715
Supporting Variants
SamplesNA19209
Known GenesINPP5F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13948149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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