A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8938118



Internal ID13430530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156737701..156737742hg38UCSC Ensembl
Innerchr7:156737721..156737722hg38UCSC Ensembl
Outerchr7:156737680..156737763hg38UCSC Ensembl
chr7:156530395..156530436hg19UCSC Ensembl
Innerchr7:156530415..156530416hg19UCSC Ensembl
Outerchr7:156530374..156530457hg19UCSC Ensembl
chr7:156223156..156223197hg18UCSC Ensembl
Innerchr7:156223177..156223176hg18UCSC Ensembl
Outerchr7:156223135..156223218hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436373
Supporting Variants
SamplesNA12249
Known GenesLMBR1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8938118
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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