A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306077



Internal ID15153025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36394633..36394634hg38UCSC Ensembl
Innerchr7:36394606..36394661hg38UCSC Ensembl
Outerchr7:36394605..36394662hg38UCSC Ensembl
chr7:36434242..36434243hg19UCSC Ensembl
Innerchr7:36434215..36434270hg19UCSC Ensembl
Outerchr7:36434214..36434271hg19UCSC Ensembl
chr7:36400767..36400768hg18UCSC Ensembl
Innerchr7:36400795..36400740hg18UCSC Ensembl
Outerchr7:36400739..36400796hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762444, essv7745684, essv7756978, essv7752517, essv7757470, essv7743681, essv7744985, essv7748036, essv7742103, essv7746211, essv7745154, essv7751198, essv7745734, essv7762040, essv7753270, essv7752039, essv7757262
SamplesNA18947, NA18561, NA18545, NA18526, NA18563, NA18550, NA18949, NA18579, NA18555, NA18945, NA18961, NA18564, NA07037, NA18552, NA18562, NA18965, NA18577
Known GenesANLN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306077
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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