A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672997



Internal ID9592416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57660496..57660829hg38UCSC Ensembl
chr20:56235552..56235885hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6191629, essv5656888, essv6309618, essv6429449, essv5449017, essv5715430, essv6555207, essv5918260, essv6382224, essv5912231
SamplesNA19700, NA19457, NA19985, NA19657, HG00657, NA19390, HG01108, NA19328, NA19116, NA19463
Known GenesPMEPA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672997
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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