A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673769



Internal ID9593188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:270842..270974hg38UCSC Ensembl
Outerchr4:270805..271024hg38UCSC Ensembl
Innerchr4:264631..264763hg19UCSC Ensembl
Outerchr4:264594..264813hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5912954, essv6155900, essv6536503, essv6048681, essv6023490, essv5774798
SamplesHG00442, HG00534, HG00427, NA18943, HG00620, HG00513
Known GenesZNF732
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673769
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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