A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370677



Internal ID1372493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24956922..24962807hg38UCSC Ensembl
Innerchr4:24956941..24962788hg38UCSC Ensembl
Outerchr4:24956903..24962826hg38UCSC Ensembl
chr4:24958544..24964429hg19UCSC Ensembl
Innerchr4:24958563..24964410hg19UCSC Ensembl
Outerchr4:24958525..24964448hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385886
hg195886
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599950
Supporting Variants
SamplesHG02624
Known GenesCCDC149
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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