A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787704



Internal ID13427116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117837045..117837046hg38UCSC Ensembl
Innerchr1:117837027..117837064hg38UCSC Ensembl
Outerchr1:117837026..117837065hg38UCSC Ensembl
chr1:118379667..118379668hg19UCSC Ensembl
Innerchr1:118379649..118379686hg19UCSC Ensembl
Outerchr1:118379648..118379687hg19UCSC Ensembl
chr1:118181190..118181191hg18UCSC Ensembl
Innerchr1:118181209..118181172hg18UCSC Ensembl
Outerchr1:118181171..118181210hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38236
hg19236
hg18236
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306656
Supporting Variants
SamplesNA12249
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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