A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305271



Internal ID15152219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32784979..32784980hg38UCSC Ensembl
Innerchr14:32784962..32784997hg38UCSC Ensembl
Outerchr14:32784961..32784998hg38UCSC Ensembl
chr14:33254185..33254186hg19UCSC Ensembl
Innerchr14:33254168..33254203hg19UCSC Ensembl
Outerchr14:33254167..33254204hg19UCSC Ensembl
chr14:32323936..32323937hg18UCSC Ensembl
Innerchr14:32323954..32323919hg18UCSC Ensembl
Outerchr14:32323918..32323955hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7770156, essv7796890, essv7807842, essv7806030, essv7784295, essv7818680, essv7807657, essv7786206, essv7794932, essv7830012, essv7812729, essv7793196, essv7779239, essv7792510, essv7787256, essv7830951, essv7822720, essv7775238, essv7798226, essv7788420, essv7791608, essv7834550, essv7817370, essv7831990
SamplesNA18592, NA18561, NA18870, NA18526, NA18563, NA18489, NA18942, NA18916, NA19138, NA18970, NA18951, NA18605, NA18948, NA18566, NA18499, NA18532, NA19257, NA18523, NA18608, NA18542, NA19108, NA18952, NA18505, NA19129
Known GenesAKAP6
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305271
Frequency
Sample Size185
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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