A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672081



Internal ID9591500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21567979..21569790hg38UCSC Ensembl
Outerchr1:21567822..21569943hg38UCSC Ensembl
Innerchr1:21894472..21896283hg19UCSC Ensembl
Outerchr1:21894315..21896436hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382122
hg192122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529152
SamplesHG00566
Known GenesALPL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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