A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079209



Internal ID81025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113533246..114158910hg38UCSC Ensembl
Innerchr1:113533396..114158760hg38UCSC Ensembl
Outerchr1:113533096..114159060hg38UCSC Ensembl
chr1:114075868..114701532hg19UCSC Ensembl
Innerchr1:114076018..114701382hg19UCSC Ensembl
Outerchr1:114075718..114701682hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38625665
hg19625665
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587240
Supporting Variants
SamplesNA18523
Known GenesAP4B1, AP4B1-AS1, BCL2L15, DCLRE1B, HIPK1, MAGI3, OLFML3, PHTF1, PTPN22, RSBN1, SYT6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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