A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338971



Internal ID15185958
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 StatusM
Merged Variants
Supporting Variantsessv8919176, essv8919158, essv8919177, essv8919168, essv8919179, essv8919166, essv8919164, essv8919184, essv8919167, essv8919160, essv8919162, essv8919172, essv8919171, essv8919178, essv8919175, essv8919173, essv8919182, essv8919169, essv8919174, essv8919163, essv8919157, essv8919180, essv8919185, essv8919161, essv8919183, essv8919165, essv8919155, essv8919154, essv8919156
SamplesNA11830, NA18947, NA18980, NA18561, NA18545, NA18526, NA18510, NA12750, NA07346, NA18563, NA19005, NA18944, NA18940, NA18558, NA18949, NA18572, NA18537, NA12249, NA18532, NA18555, NA19225, NA18593, NA18945, NA18576, NA18608, NA18953, NA18961, NA07000, NA18522
Known GenesFDCSP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338971
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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