A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635579



Internal ID7022378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103192927..103198269hg38UCSC Ensembl
Innerchr14:103192928..103198269hg38UCSC Ensembl
Outerchr14:103192927..103198270hg38UCSC Ensembl
chr14:103659264..103664606hg19UCSC Ensembl
Innerchr14:103659265..103664606hg19UCSC Ensembl
Outerchr14:103659264..103664607hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg385343
hg195343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114203, essv15114191, essv15114186, essv15114205, essv15114190, essv15114207, essv15114189, essv15114188, essv15114187, essv15114201, essv15114194, essv15114197, essv15114214, essv15114211, essv15114209, essv15114210, essv15114217, essv15114184, essv15114222, essv15114218, essv15114212, essv15114216, essv15114202, essv15114193, essv15114220, essv15114204, essv15114213, essv15114198, essv15114223, essv15114208, essv15114215, essv15114196, essv15114219, essv15114221, essv15114199, essv15114206, essv15114192, essv15114195, essv15114200, essv15114185
SamplesNA19703, HG03548, HG02973, HG02318, HG03126, HG03518, HG03193, HG03069, HG03086, NA19315, HG03091, NA18923, HG03209, HG02461, HG02946, HG02943, HG02820, HG02887, HG03294, HG03472, NA18499, HG03446, NA19225, NA19395, NA18858, HG02675, NA19436, NA20296, HG00734, HG03117, HG02982, HG02839, NA19351, HG02938, HG03060, HG02052, NA18505, HG02284, HG03439, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635579
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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