A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894318



Internal ID6519611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27780675..27783936hg38UCSC Ensembl
Innerchr1:27780675..27783936hg38UCSC Ensembl
Outerchr1:27780599..27784301hg38UCSC Ensembl
chr1:28107186..28110447hg19UCSC Ensembl
Innerchr1:28107186..28110447hg19UCSC Ensembl
Outerchr1:28107110..28110812hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585563
Supporting Variants
SamplesHG01914
Known GenesSTX12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894318
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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