A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303928



Internal ID15150876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70227587..70227588hg38UCSC Ensembl
Innerchr4:70227570..70227605hg38UCSC Ensembl
Outerchr4:70227569..70227606hg38UCSC Ensembl
chr4:71093304..71093305hg19UCSC Ensembl
Innerchr4:71093287..71093322hg19UCSC Ensembl
Outerchr4:71093286..71093323hg19UCSC Ensembl
chr4:71127893..71127894hg18UCSC Ensembl
Innerchr4:71127911..71127876hg18UCSC Ensembl
Outerchr4:71127875..71127912hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38836
hg19836
hg18836
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7777080, essv7778785, essv7783644, essv7785049, essv7787402, essv7822562, essv7821138, essv7788081, essv7826961, essv7778354, essv7836494, essv7823640, essv7787321, essv7792604, essv7803875, essv7812907, essv7834631, essv7809136, essv7833325, essv7794376, essv7798385, essv7835951, essv7790738, essv7813745, essv7775623, essv7785807, essv7818818, essv7781984, essv7810432, essv7774923
SamplesNA11830, NA18947, NA18980, NA18561, NA18545, NA18526, NA18510, NA12750, NA07346, NA18563, NA19005, NA18944, NA18940, NA18558, NA18949, NA18970, NA18572, NA18537, NA12249, NA18532, NA18555, NA19225, NA18593, NA18945, NA18576, NA18608, NA18953, NA18961, NA07000, NA18522
Known GenesFDCSP
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303928
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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