A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663771



Internal ID9583190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14488725..14490887hg38UCSC Ensembl
Outerchr19:14488688..14490937hg38UCSC Ensembl
Innerchr19:14599537..14601699hg19UCSC Ensembl
Outerchr19:14599500..14601749hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg382250
hg192250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5405451, essv6421737
SamplesNA19311, NA19468
Known GenesGIPC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663771
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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