A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988788



Internal ID6724758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776946..56777284hg38UCSC Ensembl
chr1:57242619..57242957hg19UCSC Ensembl
chr1:57015207..57015545hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568819
SamplesHuRef
Known GenesC1orf168
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988788
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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