A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6000794



Internal ID8978197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54548370..54549775hg38UCSC Ensembl
Outerchr1:54548333..54549825hg38UCSC Ensembl
Innerchr1:55014043..55015448hg19UCSC Ensembl
Outerchr1:55014006..55015498hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673445
Supporting Variants
SamplesNA18988
Known GenesACOT11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6000794
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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