A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671851



Internal ID9937956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30080624..30080893hg38UCSC Ensembl
chr12:30233557..30233826hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6071897, essv6259315, essv6294239, essv6409628, essv5949347, essv5940102, essv6380393, essv5439394, essv6549201, essv6545552, essv6065986, essv6526286, essv6488055, essv6372607, essv6580332, essv5528306, essv5590174, essv5521570, essv6217489, essv5627921, essv5533692, essv5790682, essv6097250, essv6302476, essv5965639, essv5627492, essv5395923, essv6333366, essv5992185, essv5548285
SamplesHG01356, NA19703, NA18507, NA19359, NA19355, NA18870, NA19920, NA19396, NA19381, NA18489, NA19384, NA18868, NA19917, NA18520, NA19908, NA18933, NA18910, NA18871, NA19114, NA18523, NA19147, NA19380, HG01108, HG00125, NA19818, NA19376, NA19713, NA20322, NA18511, HG01097
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671851
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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