A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6331498



Internal ID9269334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108005724..108091198hg38UCSC Ensembl
Outerchr12:108005687..108091248hg38UCSC Ensembl
Innerchr12:108399501..108484975hg19UCSC Ensembl
Outerchr12:108399464..108485025hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3885562
hg1985562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672207
Supporting Variants
SamplesNA12348
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6331498
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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