A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741301



Internal ID15089742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50327787..50327934hg38UCSC Ensembl
Innerchr7:50327837..50327884hg38UCSC Ensembl
Outerchr7:50327737..50327984hg38UCSC Ensembl
chr7:50367383..50367530hg19UCSC Ensembl
Innerchr7:50367433..50367480hg19UCSC Ensembl
Outerchr7:50367333..50367580hg19UCSC Ensembl
chr7:50337927..50338074hg18UCSC Ensembl
Innerchr7:50337977..50338024hg18UCSC Ensembl
Outerchr7:50337877..50338124hg18UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367345
Supporting Variants
SamplesNA19240
Known GenesIKZF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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