A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665387



Internal ID9584806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14487420..14487833hg38UCSC Ensembl
Outerchr19:14487383..14487883hg38UCSC Ensembl
Innerchr19:14598232..14598645hg19UCSC Ensembl
Outerchr19:14598195..14598695hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6537355, essv5809542, essv6421758, essv6055462
SamplesNA18501, NA19443, NA20341, NA20289
Known GenesGIPC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665387
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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