A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14597254



Internal ID4599070
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630648
Supporting Variants
SamplesHG01770
Known GenesCHST11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14597254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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