A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670534



Internal ID9589953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71492784..71495873hg38UCSC Ensembl
chr12:71886564..71889653hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg383090
hg193090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv300e199
Supporting Variantsessv5439534, essv5925070, essv6283201, essv6019608, essv5749013, essv6158646, essv5624832, essv6484262, essv6009281, essv5958486, essv6405943, essv5897798, essv6341033, essv6406895, essv6370884, essv5658906, essv6583827, essv5678846, essv6332209, essv6218121, essv6311714, essv5865931, essv5476751, essv5603101, essv6358934, essv5407048, essv5513555, essv6083467, essv6422955, essv5602157, essv6357938, essv6280774, essv5610018, essv6431969, essv5784877, essv5989679, essv5992862, essv6593605, essv6370347, essv6222697, essv5979288, essv5854223, essv6579431, essv5398545, essv6108899, essv6094670, essv5666086, essv5494418, essv6430418, essv6155958, essv6361363
SamplesNA18502, NA19466, NA19332, NA19704, HG01188, NA19359, NA19092, NA18486, NA18504, NA19190, NA19131, NA18916, NA19457, NA18498, NA20336, NA19904, HG01067, NA19917, NA19137, NA19172, NA18520, NA19209, NA19445, NA19985, NA18867, NA19200, NA19908, NA19210, NA19391, NA19236, NA19982, NA19225, NA18523, NA19469, NA18909, NA19108, NA19147, NA18517, NA19434, NA19444, NA19467, NA20281, NA20348, NA19223, NA20334, NA19474, NA19213, HG01377, NA19430, NA18505, NA20322
Known GenesLGR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670534
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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