A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674952



Internal ID9594371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156931841..156932030hg38UCSC Ensembl
chr5:156358852..156359041hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6481371, essv6525560, essv6583315, essv6171862, essv6054479, essv5514235, essv5481024, essv5634995, essv6247388, essv6462807, essv5568023, essv5640371, essv5809996, essv5639079, essv6050231
SamplesNA19397, NA18592, HG00699, NA18596, NA18597, HG00689, HG01069, HG00683, NA18557, HG00692, HG01101, NA19147, HG00580, HG00614, NA18624
Known GenesTIMD4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674952
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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