A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634804



Internal ID6674918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67536095..67537567hg38UCSC Ensembl
Innerchr14:67536245..67537417hg38UCSC Ensembl
Outerchr14:67535945..67537717hg38UCSC Ensembl
chr14:68002812..68004284hg19UCSC Ensembl
Innerchr14:68002962..68004134hg19UCSC Ensembl
Outerchr14:68002662..68004434hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg381473
hg191473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15046191, essv15046217, essv15046202, essv15046209, essv15046227, essv15046219, essv15046203, essv15046210, essv15046208, essv15046211, essv15046228, essv15046231, essv15046206, essv15046187, essv15046188, essv15046190, essv15046215, essv15046207, essv15046232, essv15046189, essv15046230, essv15046216, essv15046195, essv15046214, essv15046200, essv15046196, essv15046192, essv15046212, essv15046204, essv15046193, essv15046213, essv15046220, essv15046229, essv15046201, essv15046222, essv15046221, essv15046199, essv15046197, essv15046233, essv15046205, essv15046218, essv15046223, essv15046226, essv15046198, essv15046225, essv15046234, essv15046194, essv15046224
SamplesHG02580, HG03135, NA19152, NA19625, HG03064, NA18874, NA19310, HG02318, HG02419, HG02450, HG03313, NA19923, NA19331, HG02944, NA18865, HG03298, HG02314, NA19210, HG03099, HG01950, NA20412, NA19463, NA18934, NA19020, HG03436, NA19380, NA19703, NA19375, HG02545, NA19328, NA19038, HG02645, NA18867, HG03172, NA20274, NA19475, NA18864, NA18917, HG03139, HG02476, NA19916, HG02445, HG03449, HG01462, NA19473, HG01890, HG02769, NA19922
Known GenesPLEKHH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634804
Frequency
Sample Size2504
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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