A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594323



Internal ID13259615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56798916..56798935hg38UCSC Ensembl
Innerchr1:56798912..56798939hg38UCSC Ensembl
Outerchr1:56798893..56798958hg38UCSC Ensembl
chr1:57264589..57264608hg19UCSC Ensembl
Innerchr1:57264585..57264612hg19UCSC Ensembl
Outerchr1:57264566..57264631hg19UCSC Ensembl
chr1:57037177..57037196hg18UCSC Ensembl
Innerchr1:57037200..57037173hg18UCSC Ensembl
Outerchr1:57037154..57037219hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3345680
Supporting Variants
SamplesNA12815
Known GenesC1orf168
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594323
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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