A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677658



Internal ID9943763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49315392..49316741hg38UCSC Ensembl
chr12:49709175..49710524hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6558075, essv6384656, essv5584920, essv6044229, essv5927373, essv5544019, essv6060423, essv6495037, essv5730658, essv6334336, essv5897026, essv5430022, essv6463984, essv6485986, essv6424953, essv5998361, essv6205076, essv6237973, essv6392302, essv6047075, essv5609323, essv5839548, essv5852838, essv5691851, essv6168996, essv5831010, essv5870031, essv6400771, essv5693879, essv6045998, essv5456187, essv6042918, essv6545569, essv5984863, essv6150046
SamplesNA20761, HG00384, NA20783, NA18561, HG00640, NA18616, NA19067, NA18602, HG01140, NA18635, HG00346, HG00590, NA19404, HG01134, HG00281, NA19002, NA19901, HG00323, NA12748, HG00108, HG01353, HG01136, HG00176, HG00584, NA19776, HG00635, HG00331, HG00152, HG00578, NA20582, HG00329, NA18552, HG00377, NA20322, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677658
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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