A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665458



Internal ID9931563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73429583..73430858hg38UCSC Ensembl
chr6:74139306..74140581hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5511965, essv6582038, essv5871787, essv5534589, essv5612492, essv5970765, essv5486788
SamplesHG01518, HG01083, NA19651, NA18908, HG01345, NA19257, HG01075
Known GenesMB21D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665458
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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