A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6193374



Internal ID9640563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238870986..238871540hg38UCSC Ensembl
Outerchr2:238870949..238871590hg38UCSC Ensembl
Innerchr2:239779627..239780181hg19UCSC Ensembl
Outerchr2:239779590..239780231hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671116
Supporting Variants
SamplesNA19374
Known GenesTWIST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6193374
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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