A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11440486



Internal ID5044008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56377118..56382923hg38UCSC Ensembl
Innerchr4:56377118..56382923hg38UCSC Ensembl
Outerchr4:56376618..56383423hg38UCSC Ensembl
chr4:57243284..57249089hg19UCSC Ensembl
Innerchr4:57243284..57249089hg19UCSC Ensembl
Outerchr4:57242784..57249589hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385806
hg195806
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600574
Supporting Variants
SamplesNA18528
Known GenesAASDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11440486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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