A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597093



Internal ID6984407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97311314..97326804hg38UCSC Ensembl
chr3:97030158..97045648hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3815491
hg1915491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11074686, essv11074699, essv11074697, essv11074682, essv11074688, essv11074685, essv11074692, essv11074687, essv11074695, essv11074680, essv11074690, essv11074689, essv11074694, essv11074700, essv11074693, essv11074698, essv11074702, essv11074681, essv11074684, essv11074683, essv11074701, essv11074696, essv11074691
SamplesHG02610, HG01188, HG03558, HG03126, HG02895, HG02595, HG02645, HG02703, NA20278, HG02570, HG03132, HG03046, HG02666, HG02594, HG02568, HG02613, HG02455, HG03240, HG02771, HG03432, HG02861, HG02851, HG03265
Known GenesEPHA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597093
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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