A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7792138



Internal ID13881872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77168627..77168628hg38UCSC Ensembl
Innerchr1:77168610..77168645hg38UCSC Ensembl
Outerchr1:77168609..77168646hg38UCSC Ensembl
chr1:77634312..77634313hg19UCSC Ensembl
Innerchr1:77634295..77634330hg19UCSC Ensembl
Outerchr1:77634294..77634331hg19UCSC Ensembl
chr1:77406900..77406901hg18UCSC Ensembl
Innerchr1:77406918..77406883hg18UCSC Ensembl
Outerchr1:77406882..77406919hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306995
Supporting Variants
SamplesNA18519
Known GenesPIGK
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7792138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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