A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7747612



Internal ID12735488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30461547..30461548hg38UCSC Ensembl
Innerchr10:30461363..30461732hg38UCSC Ensembl
Outerchr10:30461362..30461733hg38UCSC Ensembl
chr10:30750476..30750477hg19UCSC Ensembl
Innerchr10:30750292..30750661hg19UCSC Ensembl
Outerchr10:30750291..30750662hg19UCSC Ensembl
chr10:30790482..30790483hg18UCSC Ensembl
Innerchr10:30790667..30790298hg18UCSC Ensembl
Outerchr10:30790297..30790668hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg383676
hg193676
hg183676
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303459
Supporting Variants
SamplesNA07357
Known GenesMAP3K8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7747612
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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