A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694384



Internal ID15081398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3227327..3230025hg38UCSC Ensembl
Innerchr4:3228327..3229025hg38UCSC Ensembl
Outerchr4:3226327..3231025hg38UCSC Ensembl
chr4:3229054..3231752hg19UCSC Ensembl
Innerchr4:3230054..3230752hg19UCSC Ensembl
Outerchr4:3228054..3232752hg19UCSC Ensembl
chr4:3198852..3201550hg18UCSC Ensembl
Innerchr4:3199852..3200550hg18UCSC Ensembl
Outerchr4:3197852..3202550hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376417
Supporting Variants
SamplesNA19240
Known GenesHTT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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