A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8919156



Internal ID13014327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70227586..70227596hg38UCSC Ensembl
Innerchr4:70227578..70227604hg38UCSC Ensembl
Outerchr4:70227568..70227614hg38UCSC Ensembl
chr4:71093303..71093313hg19UCSC Ensembl
Innerchr4:71093295..71093321hg19UCSC Ensembl
Outerchr4:71093285..71093331hg19UCSC Ensembl
chr4:71127892..71127902hg18UCSC Ensembl
Innerchr4:71127910..71127884hg18UCSC Ensembl
Outerchr4:71127874..71127920hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38824
hg19824
hg18824
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338971
Supporting Variants
SamplesNA07000
Known GenesFDCSP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8919156
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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