A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664272



Internal ID9930377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43072638..43073372hg38UCSC Ensembl
chr1:43538309..43539043hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5612643, essv6586549, essv5569652, essv5943719, essv6028582, essv5582954, essv6587328, essv5643320, essv6159660, essv5872864, essv6201299, essv6485790, essv6055779, essv6170121, essv6037665, essv5707500, essv5932448, essv6152830, essv6530765, essv5431664, essv6307474, essv5669325, essv5718790, essv6222917, essv5707953, essv6009433, essv5550033, essv6160842, essv6368874, essv6032274
SamplesNA11830, HG00231, NA18861, NA11933, NA12813, NA19678, NA19317, NA19445, NA20127, NA19462, NA19347, NA19152, NA19982, NA19461, HG01383, NA12827, HG00141, NA19160, NA18953, NA19375, NA19440, HG00638, NA19144, NA19311, NA19360, HG01491, NA19438, NA19472, NA19093, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664272
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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