A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634972



Internal ID6675086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75846716..75848570hg38UCSC Ensembl
Innerchr14:75846717..75848569hg38UCSC Ensembl
Outerchr14:75846715..75848571hg38UCSC Ensembl
chr14:76313059..76314913hg19UCSC Ensembl
Innerchr14:76313060..76314912hg19UCSC Ensembl
Outerchr14:76313058..76314914hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381855
hg191855
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15064503, essv15064504, essv15064506, essv15064496, essv15064509, essv15064494, essv15064505, essv15064493, essv15064489, essv15064500, essv15064486, essv15064498, essv15064507, essv15064501, essv15064490, essv15064495, essv15064511, essv15064487, essv15064499, essv15064497, essv15064492, essv15064491, essv15064488, essv15064508, essv15064485, essv15064510, essv15064502
SamplesNA19913, NA19904, NA18871, NA19819, HG02014, HG03469, HG02722, HG03103, HG03485, HG01924, HG03575, HG03484, HG02577, HG03578, HG03436, HG03052, HG01879, NA20291, HG02461, HG02623, HG01369, HG01894, HG03061, HG03369, HG03077, NA19118, HG02485
Known GenesTTLL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634972
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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