A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601750



Internal ID6988786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:109919592..109924580hg38UCSC Ensembl
Innerchr4:109919592..109924580hg38UCSC Ensembl
Outerchr4:109919286..109924898hg38UCSC Ensembl
chr4:110840748..110845736hg19UCSC Ensembl
Innerchr4:110840748..110845736hg19UCSC Ensembl
Outerchr4:110840442..110846054hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384989
hg194989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11561236, essv11561257, essv11561282, essv11561240, essv11561273, essv11561261, essv11561249, essv11561235, essv11561247, essv11561276, essv11561238, essv11561226, essv11561250, essv11561227, essv11561266, essv11561283, essv11561255, essv11561252, essv11561241, essv11561233, essv11561263, essv11561230, essv11561264, essv11561244, essv11561271, essv11561229, essv11561280, essv11561224, essv11561222, essv11561258, essv11561260, essv11561275, essv11561256, essv11561285, essv11561248, essv11561223, essv11561284, essv11561243, essv11561274, essv11561262, essv11561281, essv11561286, essv11561269, essv11561242, essv11561231, essv11561272, essv11561251, essv11561228, essv11561254, essv11561253, essv11561278, essv11561270, essv11561239, essv11561221, essv11561277, essv11561225, essv11561259, essv11561265, essv11561268, essv11561237, essv11561232, essv11561245, essv11561246, essv11561234, essv11561279, essv11561267
SamplesHG01485, NA19701, HG01413, NA20339, HG03484, NA19204, NA19020, HG03280, NA19355, HG02624, HG02769, HG03074, HG03133, NA19201, NA19315, HG03499, HG02485, NA19198, HG02620, NA19197, NA19457, NA18498, NA20287, NA19904, HG02922, NA19130, HG02489, HG03460, HG03189, NA19024, HG02642, HG02502, NA18864, NA19445, NA18867, HG03120, NA19247, HG03160, HG03511, NA19347, NA19984, NA19184, HG03291, NA19043, NA18879, HG03136, HG01890, HG02332, HG02813, HG02255, NA19206, NA19256, NA18517, HG02759, NA19334, HG02317, NA20348, HG03049, HG02462, HG02676, HG02013, HG03470, NA19430, HG03198, HG02808, NA19346
Known GenesEGF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601750
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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