A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7802945



Internal ID12684118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98974576..98974577hg38UCSC Ensembl
Innerchr12:98974557..98974596hg38UCSC Ensembl
Outerchr12:98974556..98974597hg38UCSC Ensembl
chr12:99368354..99368355hg19UCSC Ensembl
Innerchr12:99368335..99368374hg19UCSC Ensembl
Outerchr12:99368334..99368375hg19UCSC Ensembl
chr12:97892485..97892486hg18UCSC Ensembl
Innerchr12:97892505..97892466hg18UCSC Ensembl
Outerchr12:97892465..97892506hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303292
Supporting Variants
SamplesNA07037
Known GenesANKS1B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7802945
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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