A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14586989



Internal ID5894754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99592011..99640671hg38UCSC Ensembl
Innerchr12:99592025..99640658hg38UCSC Ensembl
Outerchr12:99591998..99640685hg38UCSC Ensembl
chr12:99985789..100034449hg19UCSC Ensembl
Innerchr12:99985803..100034436hg19UCSC Ensembl
Outerchr12:99985776..100034463hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3848661
hg1948661
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630530
Supporting Variants
SamplesNA19315
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14586989
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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