A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634976



Internal ID6675090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75924085..75926205hg38UCSC Ensembl
Innerchr14:75924100..75926190hg38UCSC Ensembl
Outerchr14:75924070..75926220hg38UCSC Ensembl
chr14:76390428..76392548hg19UCSC Ensembl
Innerchr14:76390443..76392533hg19UCSC Ensembl
Outerchr14:76390413..76392563hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382121
hg192121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15064547, essv15064571, essv15064580, essv15064582, essv15064563, essv15064560, essv15064581, essv15064565, essv15064570, essv15064567, essv15064551, essv15064555, essv15064550, essv15064549, essv15064572, essv15064577, essv15064556, essv15064544, essv15064558, essv15064562, essv15064585, essv15064569, essv15064566, essv15064576, essv15064545, essv15064586, essv15064557, essv15064548, essv15064564, essv15064554, essv15064561, essv15064575, essv15064579, essv15064552, essv15064559, essv15064553, essv15064584, essv15064578, essv15064546, essv15064568, essv15064573, essv15064583, essv15064574, essv15064587
SamplesHG03160, NA19152, HG01440, NA19437, HG01342, HG03410, HG03055, HG03313, NA19430, HG03265, HG02885, NA19338, HG02944, NA20321, HG03099, NA18507, NA19108, NA19037, NA18868, NA19984, HG02009, HG03578, HG02012, HG03114, HG02941, NA19375, NA18486, HG02971, HG03433, NA19711, HG03352, HG03303, NA18915, HG03123, HG02465, HG02256, HG01912, HG03139, NA20359, HG01108, HG02485, NA19171, HG03117, HG02855
Known GenesTTLL5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634976
Frequency
Sample Size2504
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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