A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628315



Internal ID7015139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2685625..2741963hg38UCSC Ensembl
Innerchr12:2685775..2741813hg38UCSC Ensembl
Outerchr12:2685475..2742113hg38UCSC Ensembl
chr12:2794791..2851129hg19UCSC Ensembl
Innerchr12:2794941..2850979hg19UCSC Ensembl
Outerchr12:2794641..2851279hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856339
hg1956339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv244e214
Supporting Variantsessv14337465, essv14337464, essv14337466, essv14337469, essv14337467, essv14337470, essv14337468
SamplesHG00403, HG00150, HG02489, HG00182, HG02322, HG00623, HG01357
Known GenesCACNA1C, CACNA1C-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628315
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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