A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11330348



Internal ID6939744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6812730..6820723hg38UCSC Ensembl
Innerchr4:6812732..6820721hg38UCSC Ensembl
Outerchr4:6812728..6820725hg38UCSC Ensembl
chr4:6814457..6822450hg19UCSC Ensembl
Innerchr4:6814459..6822448hg19UCSC Ensembl
Outerchr4:6814455..6822452hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387994
hg197994
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599511
Supporting Variants
SamplesNA21126
Known GenesKIAA0232
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11330348
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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