A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7833427



Internal ID13129912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117716188..117716189hg38UCSC Ensembl
Innerchr7:117716172..117716205hg38UCSC Ensembl
Outerchr7:117716171..117716206hg38UCSC Ensembl
chr7:117356242..117356243hg19UCSC Ensembl
Innerchr7:117356226..117356259hg19UCSC Ensembl
Outerchr7:117356225..117356260hg19UCSC Ensembl
chr7:117143478..117143479hg18UCSC Ensembl
Innerchr7:117143495..117143462hg18UCSC Ensembl
Outerchr7:117143461..117143496hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307730
Supporting Variants
SamplesNA11830
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7833427
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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