A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7776107



Internal ID13083114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:51252262..51252263hg38UCSC Ensembl
Innerchr14:51252245..51252280hg38UCSC Ensembl
Outerchr14:51252244..51252281hg38UCSC Ensembl
chr14:51718980..51718981hg19UCSC Ensembl
Innerchr14:51718963..51718998hg19UCSC Ensembl
Outerchr14:51718962..51718999hg19UCSC Ensembl
chr14:50788730..50788731hg18UCSC Ensembl
Innerchr14:50788748..50788713hg18UCSC Ensembl
Outerchr14:50788712..50788749hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305962
Supporting Variants
SamplesNA07357
Known GenesTMX1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7776107
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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