A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630648



Internal ID6670782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104575368..104576865hg38UCSC Ensembl
Innerchr12:104575391..104576843hg38UCSC Ensembl
Outerchr12:104575346..104576888hg38UCSC Ensembl
chr12:104969146..104970643hg19UCSC Ensembl
Innerchr12:104969169..104970621hg19UCSC Ensembl
Outerchr12:104969124..104970666hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14597254
SamplesHG01770
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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