A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11712767



Internal ID3865665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174963980..174965900hg38UCSC Ensembl
Innerchr4:174964001..174965879hg38UCSC Ensembl
Outerchr4:174963959..174965921hg38UCSC Ensembl
chr4:175885131..175887051hg19UCSC Ensembl
Innerchr4:175885152..175887030hg19UCSC Ensembl
Outerchr4:175885110..175887072hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603241
Supporting Variants
SamplesHG03511
Known GenesADAM29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11712767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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