A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664626



Internal ID9584045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1815258..1815702hg38UCSC Ensembl
chr12:1924424..1924868hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5861909, essv6448154, essv5871894, essv6169183, essv5680124, essv5974624, essv6527792, essv6409432, essv6497761, essv6307504, essv5413775, essv6185766, essv5513030, essv5539573, essv6337243, essv6563808, essv6344160, essv5871307, essv5933616, essv5669854, essv5828363, essv6469477, essv5769732, essv5791840, essv6554586, essv5668222, essv6562665, essv5411302, essv5780079
SamplesNA19625, NA19436, NA19093, HG00736, NA19435, HG01389, NA18517, NA19355, NA19428, NA19239, NA19917, NA19444, NA19440, NA20282, NA19190, NA19213, NA19172, NA19375, HG01073, NA19707, NA19382, NA19711, NA19235, NA18909, NA19116, NA19225, NA19916, HG01108, NA19240
Known GenesCACNA2D4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664626
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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