A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528414



Internal ID3539152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88388096..88389083hg38UCSC Ensembl
Innerchr4:88388115..88389064hg38UCSC Ensembl
Outerchr4:88388077..88389102hg38UCSC Ensembl
chr4:89309248..89310235hg19UCSC Ensembl
Innerchr4:89309267..89310216hg19UCSC Ensembl
Outerchr4:89309229..89310254hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601302
Supporting Variants
SamplesHG03127
Known GenesHERC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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