A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305081



Internal ID14805343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76102654..76102655hg38UCSC Ensembl
Innerchr4:76102637..76102672hg38UCSC Ensembl
Outerchr4:76102636..76102673hg38UCSC Ensembl
chr4:77023807..77023808hg19UCSC Ensembl
Innerchr4:77023790..77023825hg19UCSC Ensembl
Outerchr4:77023789..77023826hg19UCSC Ensembl
chr4:77242831..77242832hg18UCSC Ensembl
Innerchr4:77242849..77242814hg18UCSC Ensembl
Outerchr4:77242813..77242850hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7835085, essv7770468, essv7776286, essv7799063, essv7822749, essv7787339, essv7816701, essv7830461, essv7781775, essv7773156, essv7786526, essv7791180, essv7807879, essv7790939, essv7819497, essv7813563, essv7807674, essv7787857, essv7829501, essv7815550, essv7784777, essv7770815, essv7834167, essv7797296, essv7810611, essv7786071, essv7820434, essv7793494, essv7809129, essv7803713
SamplesNA18964, NA12154, NA12043, NA12249, NA18605, NA12750, NA18561, NA18570, NA12815, NA18603, NA18948, NA18542, NA18949, NA18566, NA18576, NA07357, NA18959, NA18609, NA18547, NA12751, NA07346, NA18564, NA18562, NA18945, NA18552, NA11992, NA12003, NA18944, NA18571, NA07000
Known GenesART3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305081
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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