A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677397



Internal ID9943502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2730827..2731018hg38UCSC Ensembl
chr19:2730825..2731016hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5772489, essv6059901, essv6583865, essv6506929, essv5625989, essv6273443, essv5989375, essv5849702, essv6232224, essv6465471, essv5907700, essv5877222, essv5408080, essv6567492, essv5824806, essv6095374
SamplesNA18561, HG00699, HG00501, HG00702, HG00448, NA18613, HG00557, HG00475, HG00500, NA18871, HG00690, NA18953, HG00476, HG00672, HG00656, NA18620
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677397
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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